Incidental Mutation 'R6037:Or8g22'
ID |
486636 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Or8g22
|
Ensembl Gene |
ENSMUSG00000095194 |
Gene Name |
olfactory receptor family 8 subfamily G member 22, pseudogene 1 |
Synonyms |
Olfr936, MOR171-37, EG628171, GA_x6K02T2PVTD-32743332-32742397 |
MMRRC Submission |
043258-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R6037 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
38957910-38958845 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 38958403 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 104
(V104A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137209
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000178303]
[ENSMUST00000216912]
|
AlphaFold |
J3KMV2 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000104850
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000178303
AA Change: V104A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000137209 Gene: ENSMUSG00000095194 AA Change: V104A
Domain | Start | End | E-Value | Type |
Pfam:7tm_1
|
1 |
246 |
6e-21 |
PFAM |
Pfam:7tm_4
|
1 |
264 |
6.9e-49 |
PFAM |
|
Predicted Effect |
silent
Transcript: ENSMUST00000216912
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.1%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Feb 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
Abi2 |
C |
A |
1: 60,503,738 (GRCm39) |
P212T |
probably damaging |
Het |
Ano4 |
A |
G |
10: 89,153,108 (GRCm39) |
F68S |
possibly damaging |
Het |
Art5 |
C |
A |
7: 101,747,591 (GRCm39) |
A63S |
probably benign |
Het |
Asgr1 |
T |
A |
11: 69,947,247 (GRCm39) |
S96R |
probably benign |
Het |
Bdp1 |
A |
T |
13: 100,163,957 (GRCm39) |
V2248D |
possibly damaging |
Het |
Cacna1s |
C |
T |
1: 135,998,705 (GRCm39) |
A200V |
possibly damaging |
Het |
Cacna2d2 |
A |
G |
9: 107,390,738 (GRCm39) |
K357E |
probably damaging |
Het |
Cdhr18 |
T |
C |
14: 13,864,282 (GRCm38) |
N348S |
probably damaging |
Het |
Cfap52 |
C |
T |
11: 67,837,126 (GRCm39) |
G212R |
probably benign |
Het |
Dcun1d3 |
A |
G |
7: 119,456,965 (GRCm39) |
F249S |
probably damaging |
Het |
Ece2 |
A |
G |
16: 20,449,112 (GRCm39) |
Y17C |
probably damaging |
Het |
Efemp1 |
C |
T |
11: 28,871,760 (GRCm39) |
T425I |
probably damaging |
Het |
Eprs1 |
A |
G |
1: 185,128,306 (GRCm39) |
E562G |
probably damaging |
Het |
Fbn2 |
T |
C |
18: 58,177,295 (GRCm39) |
T2001A |
probably benign |
Het |
Flt4 |
G |
A |
11: 49,527,867 (GRCm39) |
R940H |
probably damaging |
Het |
Fry |
T |
A |
5: 150,351,644 (GRCm39) |
M1716K |
probably benign |
Het |
Gm10684 |
T |
A |
9: 45,019,039 (GRCm39) |
|
probably benign |
Het |
Hivep1 |
G |
A |
13: 42,311,416 (GRCm39) |
V1219I |
probably damaging |
Het |
Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
Il23r |
C |
T |
6: 67,455,938 (GRCm39) |
V177M |
probably damaging |
Het |
Klf12 |
T |
C |
14: 100,137,650 (GRCm39) |
S299G |
probably benign |
Het |
Lama5 |
G |
A |
2: 179,848,806 (GRCm39) |
R265C |
probably damaging |
Het |
Lifr |
A |
G |
15: 7,216,424 (GRCm39) |
T800A |
probably damaging |
Het |
Megf8 |
T |
C |
7: 25,063,831 (GRCm39) |
L2729P |
probably damaging |
Het |
Mki67 |
A |
C |
7: 135,298,532 (GRCm39) |
S2167R |
possibly damaging |
Het |
Mus81 |
T |
C |
19: 5,534,032 (GRCm39) |
K400E |
probably damaging |
Het |
Nomo1 |
T |
A |
7: 45,712,423 (GRCm39) |
I656N |
possibly damaging |
Het |
Oas3 |
T |
C |
5: 120,907,384 (GRCm39) |
T418A |
probably benign |
Het |
Olr1 |
A |
G |
6: 129,470,504 (GRCm39) |
L221P |
probably damaging |
Het |
Or14c44 |
C |
T |
7: 86,062,478 (GRCm39) |
L303F |
probably benign |
Het |
Or5m9 |
T |
C |
2: 85,876,928 (GRCm39) |
M34T |
probably benign |
Het |
Or8b3 |
T |
A |
9: 38,314,601 (GRCm39) |
C144S |
probably benign |
Het |
Or8k28 |
T |
A |
2: 86,286,133 (GRCm39) |
I161L |
probably benign |
Het |
Pih1d1 |
C |
T |
7: 44,805,738 (GRCm39) |
A69V |
probably damaging |
Het |
Pkdrej |
A |
C |
15: 85,703,967 (GRCm39) |
S656R |
probably damaging |
Het |
Polr3f |
A |
G |
2: 144,377,943 (GRCm39) |
D171G |
probably damaging |
Het |
Rasal1 |
T |
C |
5: 120,787,566 (GRCm39) |
V11A |
possibly damaging |
Het |
Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Homo |
Sptbn4 |
T |
A |
7: 27,063,595 (GRCm39) |
Y2277F |
probably damaging |
Het |
St6galnac6 |
A |
G |
2: 32,502,240 (GRCm39) |
Q7R |
probably damaging |
Het |
Thrsp |
T |
G |
7: 97,066,499 (GRCm39) |
D71A |
possibly damaging |
Het |
Vmn2r1 |
C |
A |
3: 63,989,150 (GRCm39) |
Q30K |
probably benign |
Het |
Wipf2 |
C |
T |
11: 98,787,005 (GRCm39) |
P345S |
probably benign |
Het |
Zeb2 |
G |
T |
2: 44,878,652 (GRCm39) |
S1170* |
probably null |
Het |
Zfp947 |
A |
G |
17: 22,366,415 (GRCm39) |
Y38H |
probably damaging |
Het |
|
Other mutations in Or8g22 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01928:Or8g22
|
APN |
9 |
38,958,709 (GRCm39) |
missense |
unknown |
|
R0086:Or8g22
|
UTSW |
9 |
38,958,191 (GRCm39) |
missense |
probably benign |
0.00 |
R0561:Or8g22
|
UTSW |
9 |
38,958,669 (GRCm39) |
missense |
probably damaging |
0.99 |
R0650:Or8g22
|
UTSW |
9 |
38,957,996 (GRCm39) |
missense |
probably benign |
0.01 |
R1221:Or8g22
|
UTSW |
9 |
38,958,483 (GRCm39) |
missense |
probably damaging |
1.00 |
R1384:Or8g22
|
UTSW |
9 |
38,958,200 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1680:Or8g22
|
UTSW |
9 |
38,958,296 (GRCm39) |
missense |
probably benign |
0.43 |
R1733:Or8g22
|
UTSW |
9 |
38,958,678 (GRCm39) |
missense |
unknown |
|
R3767:Or8g22
|
UTSW |
9 |
38,958,707 (GRCm39) |
missense |
unknown |
|
R4786:Or8g22
|
UTSW |
9 |
38,958,783 (GRCm39) |
nonsense |
probably null |
|
R4944:Or8g22
|
UTSW |
9 |
38,958,158 (GRCm39) |
missense |
probably damaging |
1.00 |
R5186:Or8g22
|
UTSW |
9 |
38,958,265 (GRCm39) |
nonsense |
probably null |
|
R5403:Or8g22
|
UTSW |
9 |
38,957,999 (GRCm39) |
missense |
probably damaging |
1.00 |
R6037:Or8g22
|
UTSW |
9 |
38,958,403 (GRCm39) |
missense |
probably damaging |
1.00 |
R6156:Or8g22
|
UTSW |
9 |
38,958,671 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6217:Or8g22
|
UTSW |
9 |
38,958,039 (GRCm39) |
makesense |
probably null |
|
R6711:Or8g22
|
UTSW |
9 |
38,958,162 (GRCm39) |
makesense |
probably null |
|
R6919:Or8g22
|
UTSW |
9 |
38,958,827 (GRCm39) |
utr 5 prime |
probably benign |
|
R7022:Or8g22
|
UTSW |
9 |
38,958,379 (GRCm39) |
nonsense |
probably null |
|
R7275:Or8g22
|
UTSW |
9 |
38,958,815 (GRCm39) |
utr 5 prime |
probably benign |
|
R7290:Or8g22
|
UTSW |
9 |
38,958,694 (GRCm39) |
missense |
unknown |
|
R7644:Or8g22
|
UTSW |
9 |
38,958,638 (GRCm39) |
missense |
probably damaging |
1.00 |
R8906:Or8g22
|
UTSW |
9 |
38,958,077 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9099:Or8g22
|
UTSW |
9 |
38,958,026 (GRCm39) |
missense |
probably benign |
0.00 |
Z1176:Or8g22
|
UTSW |
9 |
38,958,215 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- GCGCAGGATGCTGATAATGATG -3'
(R):5'- TTCCTACCCTGAGTGCATAAC -3'
Sequencing Primer
(F):5'- AGGGTTGGGAAAATGGTATTAATTAG -3'
(R):5'- AGTGCATAACTCAACTTTGCTTC -3'
|
Posted On |
2017-08-16 |